Communicating the Genome

23 Pairs of Chromosones

23 Pairs of Chromosones

Tuesday morning I went to a SXSW panel on “Personalized Health.” The featured speaker was Dr. Linda Avey, a geneticist and entrepreneur who founded Much of the talk centered around her work at 23andme and their continued progress since her departure. I was quite impressed with the capabilities of 23andme and their project making personal genotyping publicly available. However, I had some concerns, and they have a lot more to do with communication than with medicine. In that area, if I may be so bold as to correct a successful geneticist, Dr Avey’s plan needs some improvement.

For $99 anyone can purchase a kit from 23andme, send in a saliva sample and get back a full report on their risks for various genetic diseases, whether they are a carrier for certain genetic diseases, information about their genetic ancestry (you might be surprised!) and information about how their body might react to certain drugs and allergens. The goal behind projects like 23andme is twofold: first, empower patients with their own data; second, build a robust database of genomes to increase the reporting accuracy by comparing each sample against the database. The end result – we all hope – is a healthier world.

While I appreciate the scientific benefits of this project and especially the health benefits to the human race, a few of the applications gave me pause. Dr. Avey mentioned first the great benefits of sequencing an infant with medical difficulties to help determine what might be the problem, which is all well and good. Then she mentioned – in passing – that another clinic has discovered a way to non-invasively obtain a DNA sample from a fetus, which could be sequenced so the parents could prepare for any eventualities. Not sure how that works, but let’s go with it; I can see how that would be helpful, but it presents some distasteful social possibilities. Finally, Dr. Avey mentioned the possibility of prospective parents having both their genome types reviewed to identify any issues before pursuing conception. In the hands of private citizens, this could be very helpful.

Now, I am not arguing the tremendous benefits these applications are meant to bring us – I’ll even say the benefits they will bring us, since I’m pretty confident this will become common place one day (just based on historical trends). What concerns me is the potential for two things: abuse of the knowledge given through sequencing and the possibility of the technology being shut down out of fear. Both are very valid and very scary.

This kind of data could be abused by private citizens in much the way that ultrasounds are abused in many places in the world to enable selective abortion in favor of sons versus daughters. On the flip side, these tests and their data could also be abused by authorities to control reproduction. Neither possibility is acceptable.

Nor is it acceptable that this medical technology be silenced due to fear.

Cracking open the human genome has been a controversial subject for years. I see no path towards making these tests available and helpful that won’t first involve a great deal of public outcry and virulent debate. There will (most likely) be yelling and cursing and tears. Feelings will be hurt. And progress will be stalled – hopefully not for long.

I brought this to the attention of the panel, asking if any plans were in place to begin these conversations in the public space now, to get ahead of the backlash, so to speak, and frame the narrative for future discussion so that the period of debate is shorter and less costly. The answer I received amounted to ‘that’s not my call, not my job.’

In a very technical sense, that’s true. Dr. Avey’s job, and the job of her cohorts, is to build the medical science, the tools. They are not dictators of the public mind, or the media, or any legislative body. They do not dictate how the technology is used or how people talk about it. However, they are currently the best, and possibly even the only, people capable of speaking intelligently about the human genome. Only they can tell us with any authority what the genome data empowers us to do, what the risk and costs are and what the process should be like. We (a society of decidedly NOT trained geneticists) cannot have this conversation intelligently because, to be frank, we have only the vaguest notion of even what the heck we’re talking about. And ignorant people having a heated debate is never pretty!

I can appreciate the desire to stay out the fire fight. But the fire fight IS coming nonetheless. There is no avoiding it. Dr. Avey and her colleagues have the opportunity to begin the deep discussions on the necessary social restraints, the etiquette  the potential legislation  all those really important things that will make this technology the helpful tool it needs to be – they can begin the discussions to develop these things on their terms, using appropriate  accurate language and arguments based in scientific fact. They can, in fact, teach us – as a society – what this new medical technology is, what it can and should do, and how to talk about it. If they don’t start these conversations now, if they don’t initiate the exchange civilly and intelligently, and acknowledge the concerns the public will certainly have, and if they don’t inform and teach us how to treat these issues, then when these things come it will be ugly and costly. This cost will not only be in dollars missed, companies shut down, or livelihoods and reputations dragged through the gutter; the cost will be in human lives lost to disease that could have been saved.

Call me old fashioned and idealistic, but as a physician’s daughter I see it as a moral obligation for the scientists and doctors behind these developments to do whatever they can to smooth the birth of this new technology. That includes building a communication strategy to establish the appropriate framework for discussing these technologies, NOW, before they are dragged into the light by the hair by angry, frightened people with no scientific or medical background. Beyond that, isn’t it just good business sense to invest in shaping a world that will accept and benefit from the medical science that is the foundation of your company? of an entire industry?

The fact that Dr. Avey and her colleagues don’t have a communication strategy didn’t shock me. A lot of people don’t think in that direction simply because it’s entirely tangential to their primary task. However, the stance that one isn’t necessary or appropriate is naive, and will only hurt people in the long run. So, in closing, thank you, Dr. Avey, for an illuminating and inspiring panel. Are you sure you don’t want to hire a communication strategist? Because you really, really need one!

To my other readers, I’m curious. Would you get your genotype sequenced? Why or why not? What answers would you most like to have regarding this technology?

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